Genome Project Ethics Office Is Achieving New Prominence In National Policy Debates

Sidebar:Active and Recently Completed NIH ELSI Research Projects With passage of time and increasing political relevance, HGP branch's influence is on the rise among decision-makers Beginning this year, the component of the United States human genome initiative that has been sponsoring studies of the ethical, legal, and social implications of the massive genome effort's ground-breaking research will be reporting the first hard results of these investigations. Current and former administrators of this ethics branch, widely referred to as ELSI, anticipate that these reports will add to the group's growing influence in national genetics-policy debates--through, for example, a serendipitous intersection with health-care reform discussions. This is welcome news for some scientists, members of Congress, and others who have criticized the programUs general lack of effectiveness in the past, demanding more solid returns on ELSI spending--approximately $20 million, so far. ELSI has been part of the Human Genome Project (HGP) since Congress first appropriated money specifically for the research effort in fiscal year 1990. Like the scientific work of the overall genome project itself, the ELSI program resides in two agencies, administered and funded separately by the National Institutes of Health and the Department of Energy. Current annual budgets for ELSI are approximately $5 million at NIH and $2 million at DOE, or about 5 percent and 3 percent, respectively, of total genome project funding. Conferences, workshops, and other projects sponsored by ELSI have helped to give shape to central questions about, for example, genetic privacy and discrimination, as well as to educate researchers and the public about ELSI issues generally. Also, the program has awarded extramural research grants for in-depth studies--the first of which are reaching completion this year (see accompanying table). Researchers funded by ELSI include psychologists, sociologists, anthropologists, historians, and philosophers, according to Elizabeth Thomson, acting chief of the NIH ELSI office. Later this fall, reports from several recently completed studies looking closely at the introduction of cystic fibrosis genetic testing into clinical settings will be presented at meetings. At the same time, a series of similar projects studying clinical testing for breast, colon, and ovarian cancer genes is being launched, with the help of supplemental funding from the National Cancer Institute and other NIH partners. In addition, the debate in Congress over health care has given issues concerning the appropriate uses of genetic information more immediate relevance, leading to inclusion of ELSI-informed language in some proposed legislative packages. A new national bioethics advisory commission being organized in the Office of Science and Technology Policy (OSTP) is expected to help promote policies based on the results of ELSI research, further increasing the program's impact. "This last year has really been the first in which the fruits of our efforts have come online," says Eric T. Juengst, who headed the NIH ELSI office from its inception until this summer. Juengst is now an associate professor of biomedical ethics at Case Western Reserve University School of Medicine, Cleveland. A number of factors have contributed to this apparent progress in enhancing ELSI's influence, according to officials. One is a sharpening of research focus, prompted partly by criticism that ELSI's early attempts to define itself described an intellectual purview that was too broad to support useful inquiries. In response, the NIH and DOE components of the program elected to pursue different general categories of questions. The NIH office is emphasizing clinical issues, professional education, and basic research, while DOE's ELSI effort explores privacy issues and public education. Another factor in ELSI's new energy, according to genome project officials and observers, is the appointment in April 1993 of Francis Collins to direct the NIH arm of the genome initiative, the National Center for Human Genome Research. "With his arrival at the genome center," Juengst says, "Francis Collins brought a real sense of urgency about getting policy developed on a lot of these issues, since, as a clinician, he's experienced them directly." Collins helped oversee development of a new five-year plan for the overall human genome initiative, which is expected to take 15 years to complete (F. Collins, D. Galas, Science, 262:43-6, 1993), and has urged, for example, that a greater proportion of ELSI's work target the issues raised when genetic information is integrated into the clinic. "If you follow the kinds of projects we've been funding, it certainly is true that we're spending more today, and will be spending more in the coming year, on clinical types of studies," notes NIH ELSI acting chief Thomson, who is also a board-certified genetic counselor. These studies generally look at the administration of a particular genetic test, including the counseling and education programs associated with it. In 1992 hearings before the House Committee on Government Operations, ELSI was criticized as being ineffective at developing and promoting policy recommendations, partly because it had no effective link to the policy process--a view that contributed to plans for the new OSTP bioethics commission. Another reason ELSI may have had a limited impact on U.S. policy in its first few years is that it does not conceive of itself primarily as a policy office. "We see ELSI as a research program," says Daniel Drell, a biologist who heads the DOE ELSI effort. "We see questions that need to be defined, and we see questions that need to be answered. Ultimately, policy formulation is a political process, not a scientific one. Our best role is to act like scientists and answer defined questions." According to Jonathan Beckwith, a professor of microbiology and molecular genetics at Harvard Medical School in Boston and a member of the working group that advises both the NIH and DOE ELSI offices, some of the criticism of ELSIUs lack of effectiveness stems from a misunderstanding of the research process and, perhaps, impatience. For example, the first several research projects started in 1991 that are only now reaching completion, he says, progressed well through a predictable start-up and development period. "The [ELSI] program was handed a nice case study to deal with in its first year," says Juengst, "because that was also the year that the human-genetics community was debating within itself about how best to use the newly developed test for the most common mutation for cystic fibrosis." In response, ELSI funded a series of pilot studies beginning in 1991 to determine the clinical protocols that should govern cystic fibrosis testing. The investigations have offered the genetic testing in different ways to different groups, with different levels and types of pretest information offered. A number of these university-based studies concluded earlier this year and will be reporting results at meetings such as the American Society of Human Genetics gathering in Montreal this fall. Scientists contend that the tightly focused cystic fibrosis projects are precisely the kinds of research that ELSI should be supporting. Also, they anticipate ELSI will sponsor more of these studies with Collins at the NIH genome center's helm. Collins "is a physician, and heUs been a prominent spokesperson in presymptomatic genetic testing," observes Maynard Olson, a professor of molecular biotechnology at the University of Washington School of Medicine, Seattle. "He's very concerned about what the appropriate medical uses are of presymptomatic tests. That's a good example of something that the ELSI office should be involved in. It's a problem which is most specifically posed by these advances in genetic knowledge." In fact, ELSI is already building on the model of the cystic fibrosis project with studies of cancer gene testing to begin this month. A significant portion of the program's funding will be involved in these studies of tests for the genes implicated in breast, colon, and ovarian cancers. "The ethical, legal, and social implications of doing genetic testing for inherited cancer risks are important issues," says Thomson. "We set aside $1 million this year to fund studies in this area." In addition, other groups at NIH have contributed to this collection of studies, according to Thomson. The National Cancer Institute budgeted $1 million for the research, and the National Institute of Nursing Research set aside $200,000, as did the National Institute of Mental Health. Thomson notes that while such focused clinical studies are taking a more prominent place in the ELSI research portfolio--and garnering more funding--other more philosophical or theoretical inquiries are also receiving support and will continue to do so. ELSI adviser Beckwith observes that these, too, are important initiatives. "There are many projects in the research portfolio that you won't see the effect of for years," he says. Some studies not targeting specific, near-term questions are exploring philosophical issues concerning free will and genetics, for example, and the impact of genetics information on popular culture, he points out. "While a significant part of the portfolio is specifically designed to yield background information that would allow you to formulate policy, some of it has much longer-range implications." According to Beckwith, although there is an inherent tension between ELSI's role as a research organization and the role it might play if it were explicitly charged with creating policy, ELSI has served in an important advisory capacity in public policy debates. "For instance, we were able to get language into some of the congressional [health-care reform] bills that dealt with genetic issues," Beckwith says. "People in the [ELSI] group were able to move fairly effectively in interacting with congressional aides." Two areas of special concern, he notes, are the privacy of genetic information in medical records and the possibility of discrimination on the basis of genetic tests. "We were quite happy with the way the privacy part of the president's health-care reform legislation looked," says Juengst. "And, similarly, the health-care reform debate has done wonders for our efforts to develop public policy to prevent genetic discrimination, primarily by insurers and secondarily by employers." ELSI is likely to see its policy influence rise further when the OSTP's National Bioethics Advisory Commission, currently in the process of developing its charter, begins work this year or next. In draft, language for the commissionUs charter specifies as one of its broad areas of inquiry the management and use of genetic information. The commission, strongly supported by Collins and members of Congress-- including Sens. Edward Kennedy (D-Mass.) and Mark Hatfield (R-Ore.)--is expected to rely on input from ELSI in addressing these concerns. "The commission is going to need the benefit of the research that's done through the ELSI program," says Rachel Levinson, assistant director for life sciences at OSTP. Levinson is charged with coordinating with relevant executive branch agencies and key congressional staff on the proposed charter for the commission. "That will provide it with a lot of very good raw material." ELSI officials and others in the government hope that the bioethics commission will be able to effectively promote policies reflecting research information generated by ELSI. "We welcome the OSTP effort," says DOE ELSI's Drell, "because it will involve the kinds of perspectives and communities that are really necessary to work towards policy formulation and which, quite frankly, we don't have in this office." But some scientists who are concerned about how genetics research may affect society remain skeptical about the likely impact of the new commission. "I'm not too impressed by [the record of] these high-level commissions getting things done," remarks Maynard Olson. "There's a risk of a lost opportunity here." Olson says he has been frustrated, over time, by a lack of persistent effort, whether by ELSI or other organizations, to promote genetic-privacy legislation. "A long time ago, looking at the situation from the standpoint of a basic scientist, I concluded that genetic privacy was the core issue," Olson declares. The baseline principal in genetic privacy, according to Olson, is that an individual has an unrestricted right to control access to or use of information about his or her own genotype, that no one--"not the government, not employers, not insurance agents"--has a right to information about an individual's genotype unless that information is voluntarily disclosed. As ELSI continues its evolution, the questions the program must answer shift and change dimensions as quickly as the genetic science that gives rise to those questions with its advances. ELSI's difficult assignment is to identify and address new issues as they emerge from the discoveries of a fast-moving scientific project. RSo often before, the technology got developed and after it was implemented somebody said, `I wonder if it makes a difference,' " says Thomson. "What an interesting idea, what a novel approach, to think that we could be studying these "I'll be blunt," says Drell. "It's an experiment. It's never been done like this before. And I'd be less than honest if I didn't say that, to some degree, we're feeling our way in the dark."

Genome Project Ethics Office Is Achieving New Prominence In National Policy Debates

Oct 2, 1994

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